Title of Project

ME/CFS Genes Study: Creating a De-identified Myalgic Encephalomyelitis/Chronic Fatigue Syndrome Genomic Database and Analyzing SNPs Frequency Trends for Potential Diagnostic Biomarker Establishment

Researcher Information

Melanie Perez

Project Type

Event

Start Date

7-4-2017 12:00 AM

End Date

7-4-2017 12:00 AM

Comments

Abhaya Moturu1, Kelly Gaunt4, Kristina Gemayel4, Syed Shehzad Ali1, Maria Cash1, Leonor Sarria1, Angela Vu1, Ishan Shah1, Nirja Patel1, Marquis Chapman1, Jecqueline Baikovitz4, Kevin Galvez3, Rajeev Jaundoo5, Ana Del Alamo5, Dr. Irma Rey5, Dr. Maria Vera2,5, Dr. Nancy Klimas2,5, Travis Craddock5

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ME/CFS Genes Study: Creating a De-identified Myalgic Encephalomyelitis/Chronic Fatigue Syndrome Genomic Database and Analyzing SNPs Frequency Trends for Potential Diagnostic Biomarker Establishment

Myalgic Encephalomyelitis/Chronic Fatigue Syndrome (ME/CFS) is a debilitating disease with unknown causes. It is known that Single Nucleotide Polymorphisms (SNPs) play an important role in gene expression. Changes to that can manifest as phenotypic changes. Prior to this ongoing study, there existed no known databases of SNPs in patients diagnosed with ME/CFS.

Our objectives are to create and continually update a novel database of SNPs that are specific for ME/ CFS patients, and to identify the relative frequency in our cohort of specific SNPs warranting further

A genetic database was created on-site through the use of a secure user-friendly online platform, REDCap©, for participants to upload their raw genetic data, acquired from 23andMe. The uploaded de- identified genetic data acquired from RedCap is modified to a suitable format for Seattle Sequence Annotation 138. The annotated data is then filtered to include only non-synonymous and nonsense SNPs from protein coding regions (exons), microRNAs, and SNPs that are close to splice sites. The frequencies of each SNP will then be calculated within our cohort and compared to public databases. Those SNPs frequencies of differing prevalence between our database and the general public will be noted for further analysis.